Linked Data
ClinVar Variation Id:
281987
dbSNP Id:
rs150755807
ExAC:
14:77745184 G / A
gnomAD v2:
14-77745184-G-A
gnomAD v3:
14-77278841-G-A
gnomAD v4:
14-77278841-G-A
COSMIC:
COSM4052580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278841G>A , CM000676.2:g.77278841G>A | GRCh38 |
| NC_000014.8:g.77745184G>A , CM000676.1:g.77745184G>A | GRCh37 |
| NC_000014.7:g.76814937G>A | NCBI36 |
| NG_008897.1:g.47042C>T , LRG_844:g.47042C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.845C>T | ||
| ENST00000556394.2:c.1461C>T | ENSP00000451967.2:p.Gly487= | |
| ENST00000682128.1:c.221C>T | ENSP00000506976.1:n.221C>T | |
| ENST00000682247.1:c.1909C>T | ENSP00000507213.1:p.Arg637Trp | |
| ENST00000682395.1:n.2384C>T | ||
| ENST00000682459.1:n.1623C>T | ||
| ENST00000682467.1:c.1892-333C>T | ENSP00000508062.1:n.1892-333C>T | |
| ENST00000682615.1:n.274C>T | ||
| ENST00000682795.1:c.2067C>T | ENSP00000507574.1:p.Gly689= | |
| ENST00000682895.1:n.1636C>T | ||
| ENST00000682955.1:n.1494C>T | ||
| ENST00000683095.1:c.326C>T | ENSP00000508040.1:n.326C>T | |
| ENST00000683188.1:c.2181C>T | ||
| ENST00000683380.1:n.1584C>T | ||
| ENST00000683828.1:c.1629C>T | ||
| ENST00000683907.1:c.185C>T | ENSP00000507754.1:p.Ala62Val | |
| ENST00000684172.1:c.296C>T | ENSP00000508391.1:n.296C>T | |
| ENST00000684259.1:n.3687C>T | ||
| ENST00000684538.1:n.1299C>T | ||
| ENST00000684549.1:n.1471C>T | ||
| ENST00000261534.9:c.1920C>T MANE Select | ENSP00000261534.4:p.Gly640= | |
| ENST00000261534.8:c.1920C>T | ENSP00000261534.4:p.Gly640= | |
| ENST00000452340.7:n.2896C>T | ||
| ENST00000554767.5:n.2706C>T | ||
| ENST00000555134.1:n.845C>T | ||
| ENST00000555710.1:c.281C>T | ENSP00000451730.1:n.281C>T | |
| ENST00000556171.1:c.512C>T | ||
| ENST00000556394.1:c.88-333C>T | ||
| ENST00000556446.1:n.221C>T | ||
| ENST00000602717.5:c.135C>T | ENSP00000487704.1:p.Gly45= | |
| NM_013382.5:c.1920C>T , LRG_844t1:c.1920C>T | NP_037514.2:p.Gly640= | |
| XM_011536675.1:c.2109C>T | XP_011534977.1:p.Gly703= | |
| XM_011536676.1:c.1776C>T | XP_011534978.1:p.Gly592= | |
| XM_011536677.1:c.1650C>T | XP_011534979.1:p.Gly550= | |
| XM_011536679.1:c.1203C>T | XP_011534981.1:p.Gly401= | |
| XR_943416.1:n.2173C>T | ||
| XM_011536675.2:c.2109C>T | XP_011534977.1:p.Gly703= | |
| XM_011536676.2:c.1776C>T | XP_011534978.1:p.Gly592= | |
| XM_011536677.3:c.1650C>T | XP_011534979.1:p.Gly550= | |
| XR_001750279.1:n.2206C>T | ||
| XR_001750282.1:n.2859C>T | ||
| XR_943416.3:n.2171C>T | ||
| NM_013382.6:c.1920C>T | NP_037514.2:p.Gly640= | |
| NM_013382.7:c.1920C>T MANE Select | NP_037514.2:p.Gly640= |